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Article

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 2011

Petkovic Vibor, Eblé Andrée, Pandey Amit V, Betta Marta, Mella Patrizia, Flück Christa E, Buzi Fabio, Mullis Primus E

Abstract excerpt

CONTEXT AND OBJECTIVE: Despite the differences in the main characteristics between the autosomal dominant form of GH deficiency (IGHD II) and the bioinactive GH syndrome, a common feature of both is their impact on linear growth leading to short stature in all affected patients. DESIGN: The index patient, a boy, was referred for assessment of his short stature (-2.54 SD score) and a delayed bone age of 5.9 yrs at...

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Identifiers

PMID: 21546299
DOI: 10.1016/j.ghir.2011.04.002

Genes

GHR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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